MR feasibility tier: A — Published pQTL-MR estimates exist for this protein (retrieved below - not computed here).
| Outcome | beta | se | p | method | nSNP | cis/trans | coloc |
|---|---|---|---|---|---|---|---|
| Non-cancer illness code self-reported: retinal detachment | 0.264 | 0.0972 | 0.00651 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: G47 Sleep disorders | 0.197 | 0.0775 | 0.0109 | Wald ratio | 1 | cis | NA |
| Major depressive disorder | 0.159 | 0.0673 | 0.0185 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: chronic obstructive airways disease or copd | 0.228 | 0.0992 | 0.0218 | Wald ratio | 1 | cis | NA |
| LDL cholesterol | -0.0332 | 0.015 | 0.0264 | Wald ratio | 1 | cis | NA |
| Alcohol intake frequency | -0.0217 | 0.0106 | 0.0413 | Wald ratio | 1 | cis | NA |
| Mean cell volume | -0.172 | 0.0844 | 0.0418 | Wald ratio | 1 | cis | NA |
| ER-negative Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) | -0.0724 | 0.038 | 0.0567 | Wald ratio | 1 | cis | NA |
| Non-cancer illness code self-reported: hypothyroidism or myxoedema | -0.0632 | 0.0341 | 0.0634 | Wald ratio | 1 | cis | NA |
| Nucleus accumbens volume | 6.05 | 3.31 | 0.0679 | Wald ratio | 1 | cis | NA |
| Body fat | -0.0275 | 0.0156 | 0.0769 | Wald ratio | 1 | cis | NA |
| Diagnoses - main ICD10: K44 Diaphragmatic hernia | 0.0907 | 0.0527 | 0.0853 | Wald ratio | 1 | cis | NA |
| …and 96 more outcomes (see JSON) |
No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).
35 association rows across 12 traits (31 genome-wide significant rows). Associations are loci, not causal claims; the mapped gene at a locus is not necessarily the effector gene.
| Trait | best p | lead SNP | n assoc | study | MR status |
|---|---|---|---|---|---|
| Epididymis-specific alpha-mannosidase levels | 8e-1296 | rs2301791 | 3 | GCST90247502 | no MR -> candidate analysis |
| Circulating FUCA1 levels | 2e-272 | rs4689486 | 5 | GCST90860617 | no MR -> candidate analysis |
| MAN2B2 protein levels | 1e-192 | rs776707824 | 16 | GCST90469844 | no MR -> candidate analysis |
| Serum levels of protein MAN2B2 | 2e-62 | rs2301793 | 1 | GCST90090583 | no MR -> candidate analysis |
| Cerebrospinal fluid protein MAN2B2 levels | 2e-45 | rs4689486 | 1 | GCST90944412 | no MR -> candidate analysis |
| Epididymis-specific alpha-mannosidase levels (MAN2B2.9251.28 | 1e-44 | rs2301790 | 1 | GCST90241096 | no MR -> candidate analysis |
| Blood protein levels | 6e-44 | rs17724993 | 1 | GCST006585 | no MR -> candidate analysis |
| Complement C1q subcomponent subunit C protein levels (SomaSc | 1e-36 | rs2301791 | 1 | GCST90442570 | no MR -> candidate analysis |
| FUCA1 protein levels | 2e-26 | rs73209757 | 3 | GCST90469275 | no MR -> candidate analysis |
| Epididymis-specific alpha-mannosidase level in Chronic kidne | 1e-13 | rs2301791 | 1 | GCST90239270 | no MR -> candidate analysis |
| S-warfarin levels | 7e-7 | rs115705089 | 1 | GCST90129562 | no MR -> candidate analysis |
| Baseline memory in impaired cognition | 9e-7 | rs4689486 | 1 | GCST90448422 | no MR -> candidate analysis |
Top diseases by Open Targets association (of 75 total). Associations are loci, not causal claims. The causal-status column is a four-state triage per pair: established (curated) = a curated clinical assertion exists (ClinGen/G2P/GEL/Orphanet/ClinVar — any validity level, MR adds little); exploratory rare-variant signal = ExWAS burden evidence without curation — a candidate NEW gene-disease relationship; common-variant locus = GWAS signal, classic pQTL-MR territory; multi-layer = burden+GWAS together, an allelic-series candidate (the strongest causal setup). Burden estimand is carrier-vs-noncarrier, not per-SD MR.
| Disease | genetic assoc. | burden (ExWAS) | causal status | MR status |
|---|---|---|---|---|
| congenital disorder of glycosylation type 1EE with or without immunodeficiency | 0.674 | — | established (curated) | no MR -> candidate analysis |
| blood coagulation disease | 0.452 | — | common-variant locus | no MR -> candidate analysis |
| placental abruption | 0.363 | — | common-variant locus | no MR -> candidate analysis |
| malignant renal pelvis neoplasm | 0.363 | — | common-variant locus | no MR -> candidate analysis |
| gastric cancer | 0.27 | — | established (curated) | no MR -> candidate analysis |
| congenital disorder of glycosylation | 0.182 | — | established (curated) | no MR -> candidate analysis |
Of the 6 rows above, 6 have no MR estimate in this resource. Across all retrieved diseases for this gene: 0 exploratory rare-variant signal(s), 0 multi-layer (allelic-series candidate) pair(s). Final triage still belongs to a statistical geneticist.
| Layer | Result |
|---|---|
| ChEMBL druggability | 0 known modulators (Epididymis-specific alpha-mannosidase) |
| gnomAD constraint | not available |
| GWAS Catalog | 106 unique SNPs / 192 rows |
| ClinVar | 453 records; 5 pathogenic in sample of 30 |
| PharmGKB/ClinPGx | no annotations |
phenome — Top 30 of 75 associated diseases by overall score. genetic_association aggregates GWAS common-variant AND rare-variant evidence. These are ASSOCIATIONS (loci), not causal claims.chembl — ChEMBL target matched by text search on ‘MAN2B2’ and resolved to ‘Epididymis-specific alpha-mannosidase’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 453 ClinVar records for this gene; it is a sample, not a rate.pharmgkb — No PharmGKB/ClinPGx clinical annotations (gene may not be a pharmacogene).gwas_traits — Top 12 of 12 traits by best p-value, aggregated from 35 association rows. These are GWAS ASSOCIATIONS (loci), not causal claims; mapped genes at a locus are not necessarily the effector gene.uniprot: https://www.uniprot.org/uniprotkb/Q9Y2E5 — UniProt release 2026_02 (10-June-2026)mr_outcomes: https://epigraphdb.org/pqtl/ — EpiGraphDB pQTL MR (Zheng et al., Nat Genet 2020) — pre-computed two-sample MR; retrieved, not computed by this agent; EpiGraphDB build 1.0, pQTL dataset v3.0phenome: https://platform.opentargets.org/target/ENSG00000013288/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL2682/ — ChEMBL_37 (released 2026-05-01)gwas: https://www.ebi.ac.uk/gwas/genes/MAN2B2 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=MAN2B2%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/MAN2B2 — GWAS Catalog search API (live; release not exposed)